Donald School Journal of Ultrasound in Obstetrics and Gynecology

Register      Login

VOLUME 5 , ISSUE 1 ( January-March, 2011 ) > List of Articles


Sonogenetics: A Breakthrough in Prenatal Diagnosis

Kwong Wai Choy, Leung Tak Yeung, Tze Kin Lau

Keywords : Prenatal diagnosis,Sonogenetics,Microarray,Fetal DNA chip,Ultrasound

Citation Information : Choy KW, Yeung LT, Lau TK. Sonogenetics: A Breakthrough in Prenatal Diagnosis. Donald School J Ultrasound Obstet Gynecol 2011; 5 (1):73-77.

DOI: 10.5005/jp-journals-10009-1180

License: CC BY-NC 4.0

Published Online: 01-12-2011

Copyright Statement:  Copyright © 2011; The Author(s).


G-band and rapid FISH/QF-PCR are regarded as the gold standards for prenatal chromosomal diagnosis. Numerous microdeletion/ microduplication syndromes, however, are not detectable by conventional karyotyping. So far, we had a dilemma between fetal developmental/structural abnormalities with strong suspicion of chromosomal abnormalities and normal karyotype results. Fetal DNA chip includes more than 6,450 genetic loci and covers more than 100 common genetic diseases with numeric, structural chromosomal anomalies.

In April 2009, we launched prenatal diagnosis by fetal DNA chip of amniotic fluid samples or chorionic villi samples in the selected fetuses with sonographic abnormalities and suspicion of familial genetic disorders. We had seven cases with both abnormal ultrasound findings and pathologic copy number variations by DNA chip. In all cases, normal karyotype was confirmed by G-banding analysis.

Fetal DNA chip (array CGH) may become a strong modality to solve some part of this dilemma. Although we have to be prudent to select the patients, deal with DNA chip results and parental counseling, “sonogenetics” is one of the breakthroughs in prenatal diagnosis, and the further accumulation of case studies will be required in this new field.

PDF Share
  1. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nature Genetics 2008;40(12);1466-71.
  2. The array CGH and its clinical applications. Drug Discov Today 2008;13:760-70.
  3. De novo 16p13.11 microdeletion identified by high-resolution array-CGH in a fetus with increased nuchal translucency. BJOG 2009;116(2):339-43.
  4. Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature. Am J Med Genet A 2008;146A(23):3062-69.
  5. Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. J Med Genet 2009;46;123-31.
  6. The impact of human copy number variation on a new era of genetic testing. BJOG 2010;117(4):391-98.
  7. Classification of pathogenic or benign status of CNVs detected by microarray analysis. Expert Rev Mol Diagn 2010;10(6): 717-21.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.